Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Cuoco, Cristina ^a   Ronchetto, Patrizia ^a   Gimelli, Stefania ^b   Béna, Frédérique ^b   Divizia, Maria Teresa ^a   Lerone, Margherita ^a   Mirabelli Badenier, Marisol ^a   Mascaretti, Monica ^a   Gimelli, Giorgio ^a  

^a G GASLINI INSTITUTE   (Italy)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CELL ADHESION MOLECULE; CHL1 PROTEIN; OLIGOMER; UNCLASSIFIED DRUG; CHL1 PROTEIN, HUMAN; MEMBRANE PROTEIN;

3P26 3 DELETION; ARTICLE; CAFE AU LAIT SPOT; CASE REPORT; CESAREAN SECTION; CHILD; CHROMOSOME 3P; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; ECTOPIC TISSUE; ELECTROENCEPHALOGRAM; FATHER; FLUORESCENCE IN SITU HYBRIDIZATION; FORAMEN MAGNUM; GENE MAPPING; GENE SEQUENCE; GENETIC COUNSELING; HUMAN; LANGUAGE DEVELOPMENT; LEARNING; MALE; MARKER GENE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MICROCEPHALY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MYOPIA; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PROTEIN BLOOD LEVEL; PSYCHOMOTOR DEVELOPMENT; RECURRENT DISEASE; RETINA FOVEA; SCHOOL CHILD; STRABISMUS; TONIC CLONIC SEIZURE; TONSIL; CHROMOSOME 3; CHROMOSOME MAP; DNA MICROARRAY; GENETICS; GROWTH DISORDER; KARYOTYPING; SIBLING;

CHILD; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; FATHERS; GROWTH DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MEMBRANE PROTEINS; MENTAL RETARDATION; MICROCEPHALY; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; SIBLINGS;

EID: 79953247204     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-12     Document Type: Article

References (19)

1. Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome. CB Cargile DL Goh BK Goodman XN Chen JR Korenberg GL Semenza GH Thomas, Am J Med Genet 2002 109 133 138 10.1002/ajmg.10323 11977162 (Pubitemid 34273221)
2. Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review. H Malmgren S Sahlén K Wide M Lundvall E Blennow, Am J Med Genet A 2007 143A 2143 2149 10.1002/ajmg.a.31902 17696125
3. Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect. J Takagishi KA Rauen T Drumheller B Kousseff M Sutcliffe, Am J Med Genet A 2006 140 1587 1593 16770804 (Pubitemid 43993119)
4. Terminal 3p deletions in two families - correlation between molecular karyotype and phenotype. P Pohjola N de Leeuw M Penttinen H Kää riäinen, Am J Med Genet A 2010 152A 441 446 10.1002/ajmg.a.33215 20101686
5. Del(3)(p25.3) without phenotypic effect. LA Knight MH Yong M Tan IS Ng, J Med Genet 1995 32 994 995 10.1136/jmg.32.12.994 8825934
6. Terminal 3p deletions: phenotypic variability, chromosomal non-penetrance, or gene modification? JC Barber, Am J Med Genet A 2008 146A 1899 1901 10.1002/ajmg.a.32387 18553547 (Pubitemid 352000736)
7. Follow-up of an intelligent odd-mannered teenager with del(3)(p26). Remarks on authorship and ethical commitment. H Rivera MG Domínguez E Matute, Genet Couns 2006 17 401 405 17375525 (Pubitemid 46324536)
8. Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit. AE Shrimpton KA Jensen JJ Hoo, Am J Med Genet A 2006 140A 388 391 10.1002/ajmg.a.31066 (Pubitemid 43227655)
9. FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. T Dijkhuizen T van Essen P van der Vlies JB Verheij B Sikkema-Raddatz AY van der Veen KB Gerssen-Schoorl CH Buys K Kok, Am J Med Genet A 2006 140 2482 2487 17036314 (Pubitemid 44684945)
10. Microarray based analysis of 3p25-p26 deletions (3p- syndrome). S Shuib D McMullan E Rattenberry RM Barber F Rahman M Zatyka C Chapman F Macdonald F Latif V Davison ER Maher, Am J Med Genet A 2009 149A 2099 2105 10.1002/ajmg.a.32824 19760623
11. CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior. SG Frints P Marynen D Hartmann JP Fryns J Steyaert M Schachner B Rolf K Craessaerts A Snellinx K Hollanders R D'Hooge PP De Deyn G Froyen, Hum Mol Genet 2003 12 1463 1474 10.1093/hmg/ddg165 12812975 (Pubitemid 36857295)
12. CALL gene is haploinsufficient in a 3p- syndrome patient. D Angeloni NM Lindor S Pack F Latif M-H Wei MI Lerman, Am J Med Genet 1999 86 482 485 10.1002/(SICI)1096-8628(19991029)86:5<482::AID-AJMG15>3.0.CO;2-L 10508992 (Pubitemid 29503203)
13. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. JC Barber, J Med Genet 2005 42 609 629 10.1136/jmg.2004.026955 16061560 (Pubitemid 41129033)
14. In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules. MH Wei I Karavanova SV Ivanov NC Popescu CL Keck S Pack MI Eisen JA. Lerman, Hum Genet 1998 103 355 364 10.1007/s004390050829 9799093 (Pubitemid 28470089)
15. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. E Klopocki H Schulze G Strauss CE Ott J Hall F Trotier S Fleischhauer L Greenhalgh RA Newbury-Ecob LM Neumann R Habenicht R König E Seemanova A Megarbane HH Ropers R Ullmann D Horn S Mundlos, Am J Hum Genet 2007 80 232 240 10.1086/510919 17236129 (Pubitemid 46175672)
16. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. HC Mefford AJ Sharp C Baker A Itsara Z Jiang K Buysse S Huang VK Maloney JA Crolla D Baralle A Collins C Mercer K Norga T de Ravel K Devriendt EM Bongers N de Leeuw W Reardon S Gimelli F Bena RC Hennekam A Male L Gaunt J Clayton-Smith I Simonic SM Park SG Mehta S Nik-Zainal CG Woods HV Firth G Parkin M Fichera S Reitano M Lo Giudice KE Li I Casuga A Broomer B Conrad M Schwerzmann L Räber S Gallati P Striano A Coppola JL Tolmie ES Tobias C Lilley L Armengol Y Spysschaert P Verloo A De Coene L Goossens G Mortier F Speleman E van Binsbergen MR Nelen R Hochstenbach M Poot L Gallagher M Gill J McClellan MC King R Regan C Skinner RE Stevenson SE Antonarakis C Chen X Estivill B Menten G Gimelli S Gribble S Schwartz JS Sutcliffe T Walsh SJ Knight J Sebat C Romano CE Schwartz JA Veltman BB de Vries JR Vermeesch JC Barber L Willatt M Tassabehji EE Eichler, N Engl J Med 2008 359 1685 1699 10.1056/NEJMoa0805384 18784092
17. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. FD Hannes AJ Sharp HC Mefford T de Ravel CA Ruivenkamp MH Breuning JP Fryns K Devriendt G Van Buggenhout A Vogels H Stewart RC Hennekam GM Cooper R Regan SJ Knight EE Eichler JR Vermeesch, J Med Genet 2009 46 223 232 10.1136/jmg.2007. 055202 18550696
18. Phenotypic variability and genetic susceptibility to genomic disorders. S Girirajan EE Eichler, Hum Mol Genet 2010 19 R2 176 187 10.1093/hmg/ddq366 20807775
19. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. S Girirajan JA Rosenfeld GM Cooper F Antonacci P Siswara A Itsara L Vives T Walsh SE McCarthy C Baker HC Mefford JM Kidd SR Browning BL Browning DE Dickel DL Levy BC Ballif K Platky DM Farber GC Gowans JJ Wetherbee A Asamoah DD Weaver PR Mark J Dickerson BP Garg SA Ellingwood R Smith VC Banks W Smith MT McDonald JJ Hoo BN French C Hudson JP Johnson JR Ozmore JB Moeschler U Surti LF Escobar D El-Khechen JL Gorski J Kussmann B Salbert Y Lacassie A Biser DM McDonald-McGinn EH Zackai MA Deardorff TH Shaikh E Haan KL Friend M Fichera C Romano J Gécz LE DeLisi J Sebat MC King LG Shaffer EE Eichler, Nat Genet 2010 42 203 209 10.1038/ng.534 20154674